Fedor M. Teryutin
0000-0002-8659-0886
Yakut Scientific Center of Complex Medical Problems
12 papers found
Refreshing results…
A novel mutation in the COL4A5 gene in the Yakut family with Alport syndrome
Estimation of the mutation age c.1621C>T p.(Gln541*) in the FYCO1 gene responsible for the development of autosomal recessive congenital cataract in the Yakut population
A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia
The Spectrum and Frequency of Inner Ear Anomalies in Patients with Congenital Hearing Impairment in Yakutia
Clinical, audiological and genealogical analysis of hearing disorders in the Republic of Buryatia
Analysis of thyroid hormone levels in patients with hearing disorders in the Republic of Buryatia: search for Pendred syndrome phenotypes
A serological survey of echinococcosis, toxocariasis and trichinellosis among rural inhabitants of Central Yakutia
A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia)
Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic)
Age-Related Hearing Impairment (ARHI) Associated with GJB2 Single Mutation IVS1+1G>A in the Yakut Population Isolate in Eastern Siberia
Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect
Haplotype Diversity and Reconstruction of Ancestral Haplotype Associated with the c.35delG Mutation in the GJB2 (Cx26) Gene among the Volgo-Ural Populations of Russia
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